Affected children are delayed in sitting and most never walk. This means that mutations occur in the x chromosome, one of the two that determine sex. To learn more about the genetics of lesch nyhan syndrome, speak with a geneticist or genetic counselor. Males usually have one x chromosome and one y chromosome. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid. Leschnyhan syndrome is inherited in an xlinked recessive pattern.
Leschnyhan syndrome is a rare disorder that affects males. However, in most cases, females may be carriers of the disease gene, but do not exhibit any symptoms. The features of lns are intellectual disability, spastic cerebral palsy, hyperuricemia uric acid overproduction, and choreoathetosis. Some studies show that there may be a higher chance than 23 66% for the mother to be carrier in lesch nyhan syndrome. You can find a genetics clinic near you by searching the american college of medical genetics. Lesch nyhan syndrome lns is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthineguanine phosphoribosyltransferase hgprt. Leschnyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction hyperuricemia. Symptoms of lns include dystonia, gout, intellectual disability, and selfmutilation. Lesch nyhan syndrome nord national organization for. The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Leschnyhan syndrome is a condition that occurs almost exclusively in males.
Uric acid is a waste product of normal chemical processes and is found in blood and urine. According to one estimate, the disorder occurs at the rate of approximately one in 380,000 births in the united states. Lesch nyhan syndrome lns is an xlinked condition caused by mutation in the hprt1 gene xq26q27. Lesch nyhan syndrome lns is a rare xlinked disorder caused by mutations in hprt1, an important enzyme in the purine salvage pathway. This deficiency occurs due to mutations in the hprt1 gene located on the x chromosome. Lesch nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. Women, who have two x chromosomes, display lesch nyhan syndrome when both have this mutation.